Canonical Allele Identifier: CA8424075

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 1219217
• ClinVar RCV Id: RCV001588306
• dbSNP Id: rs367916338
• ExAC: 17:18041421 G / A
• gnomAD v2: 17-18041421-G-A
• gnomAD v3: 17-18138107-G-A
• gnomAD v4: 17-18138107-G-A
• MyVariant Identifiers: chr17:g.18041421G>A (hg19) ; chr17:g.18138107G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18138107G>A , CM000679.2:g.18138107G>A	GRCh38
NC_000017.10:g.18041421G>A , CM000679.1:g.18041421G>A	GRCh37
NC_000017.9:g.17982146G>A	NCBI36
NG_011634.1:g.34402G>A
NG_011634.2:g.34402G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646238.1:n.140-8G>A
ENST00000647165.2:c.4876-8G>A MANE Select	ENSP00000495481.1:n.4876-8G>A
ENST00000205890.9:c.4876-8G>A	ENSP00000205890.5:n.4876-8G>A
ENST00000615845.4:c.4876-8G>A	ENSP00000481642.1:n.4876-8G>A
NM_016239.3:c.4876-8G>A	NP_057323.3:n.4876-8G>A
XM_011523917.1:c.4870-8G>A	XP_011522219.1:n.4870-8G>A
XM_011523918.1:c.4870-8G>A	XP_011522220.1:n.4870-8G>A
XM_011523919.1:c.4870-8G>A	XP_011522221.1:n.4870-8G>A
XM_011523920.1:c.4870-8G>A	XP_011522222.1:n.4870-8G>A
XM_011523921.1:c.4870-8G>A	XP_011522223.1:n.4870-8G>A
XR_934037.1:n.5529-8G>A
XR_934038.1:n.5529-8G>A
XR_934039.1:n.5529-8G>A
XM_011523918.2:c.4870-8G>A	XP_011522220.1:n.4870-8G>A
XM_017024714.2:c.4870-8G>A	XP_016880203.1:n.4870-8G>A
XM_017024715.2:c.4879-8G>A	XP_016880204.1:n.4879-8G>A
XM_024450780.1:c.4870-8G>A	XP_024306548.1:n.4870-8G>A
XM_024450781.1:c.4870-8G>A	XP_024306549.1:n.4870-8G>A
XM_024450782.1:c.4870-8G>A	XP_024306550.1:n.4870-8G>A
XR_934039.2:n.5568-8G>A
NM_016239.4:c.4876-8G>A MANE Select	NP_057323.3:n.4876-8G>A